Detection of the Pallister-Killian Syndrome by G-Banding and FISH in Cultured Skin Fibroblasts / 대한임상병리학회지
Korean Journal of Clinical Pathology
; : 284-287, 1998.
Article
de Ko
| WPRIM
| ID: wpr-202971
Bibliothèque responsable:
WPRO
ABSTRACT
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, however, tissue cultures show varying degree of mosaicism for an extra metacentric chromosome i(12)(p10). We report on a two-year-old boy with Pallister-Killian syndrome confirmed by FISH in cultured skin fibroblasts. The patient had myoclonic seizures beginning at 2 months and was delayed in physical and speech development. Craniofacial manifestations include sparsity of scalp hair, hypertelorism, sparse eyebrows, flat nasal bridge, and large ears. Cytogenetic analysis of peripheral lymphocytes done at another hospital was reported to be normal. Studies of his skin fibroblasts showed an extra small metacentric i(12p) chromosome in 100% of metaphases. FISH using of whole chromosome painting probe for chromosome 12 confirmed that the supernumerary chromosome was an isochromosome 12p.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Cuir chevelu
/
Crises épileptiques
/
Peau
/
Chromosomes humains de la paire 12
/
Lymphocytes
/
Isochromosomes
/
Peinture chromosomique
/
Analyse cytogénétique
/
Oreille
/
Épilepsie
Type d'étude:
Diagnostic_studies
Limites du sujet:
Humans
/
Male
langue:
Ko
Texte intégral:
Korean Journal of Clinical Pathology
Année:
1998
Type:
Article